Canonical Allele Identifier: CA13300576
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1243953
ClinVar RCV Id: RCV001648219
dbSNP Id: rs56055735
gnomAD v2: 10-135179363-G-C
gnomAD v3: 10-133365859-G-C
gnomAD v4: 10-133365859-G-C
MyVariant Identifiers: chr10:g.135179363G>C (hg19) chr10:g.133365859G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133365859G>C , CM000672.2:g.133365859G>C GRCh38
NC_000010.10:g.135179363G>C , CM000672.1:g.135179363G>C GRCh37
NC_000010.9:g.135029353G>C NCBI36
NG_042077.1:g.12546C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.739+117C>G MANE Select ENSP00000357535.3:n.739+117C>G
ENST00000368547.3:c.739+117C>G ENSP00000357535.3:n.739+117C>G
NM_004092.3:c.739+117C>G NP_004083.3:n.739+117C>G
XR_002956965.1:n.1595+117C>G
NM_004092.4:c.739+117C>G MANE Select NP_004083.3:n.739+117C>G
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